Fetal Diagnosis and Therapy最新文献

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a rare condition complicating monozygotic multiple gestations. Prenatal management via umbilical cord occlusion (UCO) of the anomalous twin has been shown to improve pump twin survival. We compared outcomes of gestations with high-risk TRAP sequence treated with mid-trimester UCO using laser photocoagulation versus radiofrequency ablation (RFA).

Methods: This is a retrospective, single-center, cohort study of all patients with high-risk TRAP sequence who underwent UCO from 2006-2023. High-risk criteria were defined as follows: larger abdominal circumference of the anomalous twin, polyhydramnios, critically abnormal Doppler waveforms in the pump twin, hydrops in the pump twin, and/or monoamniotic twins. The primary outcome was 30-day survival of the pump twin.

Results: The 74 patients were divided equally between the laser and RFA groups. For the 2 groups, mean gestational age (GA) at UCO (20.5 ± 2.3 vs. 20.7 ± 3.1 weeks, p = 0.987) and mean GA at delivery (35.2 ± 4.6 vs. 34.5 ± 5.7 weeks, p = 0.812) were similar. The 30-day neonatal survival rate did not differ (91.9% [34/37] vs. 89.2% [33/37], OR: 1.37 [0.29-6.61], p = 0.692).

Conclusion: No difference in 30-day neonatal survival was identified in patients with high-risk TRAP sequence who underwent mid-trimester UCO by laser versus RFA.

Introduction: Selective fetal growth restriction (sFGR) complicates 10-15% of monochorionic twin gestations. Prior studies reported neonatal cardiac hypertrophy present in 25% of twins impacted by sFGR, most commonly the larger twin (80%). Our primary objective was to characterize fetal cardiac structural and functional echocardiogram findings in sFGR twins.

Methods: A retrospective cohort analysis was performed of monochorionic twin pregnancies complicated by type II or type III sFGR managed and delivered at a single tertiary center from 2015 to 2023. Patients diagnosed with twin to twin transfusion syndrome, twin anemia-polycythemia sequence, or undergoing laser treatment for any indication were excluded. All twin pairs underwent fetal echocardiogram by board-certified pediatric cardiologists at our center. In cases of abnormal fetal echocardiograms, a pediatric echocardiogram was performed after birth. Clinically relevant data were obtained from electronic medical records. Right and left myocardial performance index (MPI) were calculated incorporating ejection, isovolumetric contraction, and isovolumetric relaxation times as well as combined cardiac output, cardiac hypertrophy, and tricuspid regurgitation.

Results: During the study period, 35 pregnancies complicated by type II or type III sFGR were managed by our team. Two patients were excluded as they did not undergo fetal echocardiograms as planned. The remaining 33 twin pairs underwent echocardiogram analysis at 20 weeks ± 6 days on average. Compared to the sFGR fetuses, appropriate for gestational age (AGA) fetuses were more likely to have tricuspid regurgitation (TR, 37 vs. 9%, p = 0.02), right ventricular hypertrophy (RVH, 42 vs. 9%, p = 0.003), left ventricular hypertrophy (31 vs. 3%, p = 0.006), elevated right MPI (0.36 [0.26, 0.49] vs. 0.29 [0.24, 0.35], p = 0.03), and elevated left MPI (0.32 [0.29, 0.47] vs. 0.29 [0.25, 0.35], p = 0.02). No difference was noted in combined cardiac output (534 [483, 596] vs. 522 [447, 596], p = 0.41). At birth, 55% (6/11) of AGA fetuses with abnormal fetal echocardiograms had RVH and TR compared to 25% (1/4) of sFGR fetuses.

Conclusion: In this cohort of expectantly managed monochorionic twins complicated by type II and type III sFGR, larger twins were noted to have several findings consistent with hemodynamic changes which could reflect cardiac overload in the prenatal period. In addition, these may persist during neonatal life. Further assessment of neonatal and pediatric outcomes is needed to determine the long-term implications of these sonographic findings.

Introduction: Compound heterozygous hemoglobin Q-Thailand (Hb QT) and hemoglobin Constant Spring (Hb CS) are rare hemoglobinopathies found occasionally in Southeast Asia. This condition is associated with varying degrees of anemia. This report aims to describe the prenatal diagnosis, natural course, and intrauterine treatment of Hb QT/CS disease, which is thought to be more severe during fetal development than to later in life.

Case presentation: A 23-year-old pregnant woman who was at risk of fetal Hb E/β-thalassemia underwent a prenatal ultrasound examination and cordocentesis at 21 weeks of gestation. The ultrasound revealed signs of fetal anemia, including mild cardiomegaly and normal peak systolic velocity in the middle cerebral artery (MCA-PSV). Fetal hemoglobin analysis revealed a diagnosis of Hb QT/CS disease, which was confirmed by molecular study. A follow-up ultrasound at 23 weeks showed progressive cardiac enlargement, increased anemia, increased MCA-PSV, and mild hydropic changes. An intrauterine blood transfusion (IUT) was administered. Subsequent ultrasounds demonstrated a complete resolution of the hydropic signs. The fetus required only one IUT, and the anemia improved spontaneously later in the pregnancy. The woman delivered a healthy male newborn vaginally at 39 weeks of gestation.

Conclusion: Hb QT/CS disease can lead to fetal anemia and hydrops fetalis. However, the severity of anemia in this case improves as the pregnancy progresses toward term. If the fetus survives the critical period in utero without significant organ damage from anemia, a favorable long-term prognosis is possible. This report is the first to describe the prenatal diagnosis, natural course, and intrauterine treatment of Hb QT/CS disease with a successful outcome.

Introduction: The normal values of the amniotic fluid index (AFI) throughout pregnancy have been established as 5-24 cm. However, a similar AFI may correspond to a different AF volume at different gestational ages. The aim of this study was to calculate the amount of fluid corresponding to each cm of AFI when a known volume of fluid is infused into the uterine cavity.

Methods: This was a secondary analysis of a prospective cohort observational study. Serial amnioinfusions (AIs) were performed between 10 and 34 weeks of gestation in 19 fetuses with anhydramnios due to severe renal damage. The AFI was measured just before and after AI, and the volume of fluid/AFI cm was estimated as infused fluid (mL)/AFI final-AFI initial. Mean and standard deviation per gestational week were obtained, and amniotic fluid volumes corresponding to AFIs of 5 cm, 18 cm, and 24 cm were calculated.

Results: A total of 279 AIs were performed (median/case n = 15, range 3-22). The mean volume of fluid per cm of AFI at 20 weeks was 25.08 mL (SD 5.72 mL), 40.61 mL (SD 27.4 mL) at 30 weeks, and 34.64 mL (SD 14.8 mL) at 34 weeks. There was a 61% increment in AF fluid per AFI cm from 20 to 30 weeks of gestation, and a reduction of 14.7% between 30 and 34 weeks of gestation. Extrapolating these calculations, the volume of fluid corresponding to an AFI of 18 cm at 20 weeks was 451.4 mL, at 30 weeks 731.0 mL, and at 34 weeks, 623.5 mL.

Conclusion: The volume of amniotic fluid per cm of AFI changes during gestation. The definition of poly or oligohydramnios based on the same AFI can vary up to 61% in fluid volume from 20 to 30 weeks of gestation.

Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and severe condition, and current methods for early diagnosis and treatment of this disease remain unclear. Here, we describe 3 patients with ARRTD.

Case presentation: The 3 cases come from three independent pedigrees and harbor completely different ACE gene mutation types. Two infants died of the disease shortly after birth despite treatment attempts, while one infant showed improvement with symptomatic therapies including blood pressure elevation, respiratory support, diuretics, and CRRT and was discharged. During the 27-month follow-up, this patient exhibited normal renal function and ultrasound findings.

Conclusion: For fetuses with diagnosed ARRTD, symptomatic treatment for oligohydramnios and interventions to promote fetal maturation before preterm birth are important. Postnatally, critical management strategies include respiratory support, blood pressure stabilization, and renal support/replacement. With effective treatment, ARRTD patients have the potential to achieve long-term survival and normal renal function.

Introduction: Fetal renal failure (FRF) is a challenging antenatal diagnosis associated with insufficient pulmonary development and potential compromise for the future possibility of dialysis and kidney transplantation. Even in cases in which lung development can be fostered by serial amnioinfusions (AIs), infants who are born prematurely may not qualify for peritoneal dialysis due to weight criteria.

Methods: We describe our outcomes after introducing an integrated approach at two institutions to prenatal management of FRF with a serial AI protocol and postnatal management with peritoneal dialysis. Our primary endpoint was survival to 6 months of age with successful dialysis, and the secondary outcomes included the ability to transition to renal transplantation.

Results: The mean gestational age at which AIs were initiated was 23.3 ± 2.32 weeks for the whole cohort. There was no significant difference between survivors (22.51 ± 1.70 weeks) and non-survivors (23.31 ± 2.69 weeks, p = 0.339) in the gestational age at initiation of AIs. The mean gestational age at delivery for the entire cohort was 34.8 ± 2.62 weeks, and there was a trend toward but did not achieve significance between survivors (35.0 ± 1.60 weeks) compared to non-survivors (33.17 ± 3.34 weeks, p = 0.066). Survival to delivery was 100% for the total AI cohort (n = 30).

Conclusion: A total of 83% of patients alive at 48 h survived the neonatal period and of those surviving the neonatal period, 62.5% survived a minimum of 6 months on outpatient peritoneal dialysis (PD). This series also established that PD can be successfully performed in neonates as small as 1,500 g. Four patients have successfully undergone renal transplantation. Serial AIs for FRF offer the potential, not only in neonatal pulmonary survival but also long-term survival to kidney transplantation.

Introduction: Patients delivering in a highly specialized fetal center often travel a distance from their homes and primary care providers, leaving the potential for significant gaps in comprehensive postpartum care. The objective of the study was to evaluate the implementation, engagement, and outcomes of a nurse-led postpartum follow-up program during its first year of inception.

Methods: A registered nurse conducted outreach via phone, text, or email at 2-3 and 6-8 weeks postpartum for all patients who delivered in a special delivery unit of a children's hospital. Standardized scripts included medical and mental health concerns to assess engagement, postpartum complications, care utilization, contraception use, lactation, and follow-up completion.

Results: Of 407 patients, 503 total outreach calls were completed. The engagement rate was high, with contact established for 89.9% of participants. At least one clinical concern was identified in over 25% of patients, prompting further follow-up. Only 1.7% required readmission and 94.3% visited an emergency department, rates comparable to national postpartum benchmarks. At 6-8 weeks, 75% had attended or scheduled a postpartum visit. Contraception use was reported by 65% of patients, and 67% reported active lactation. Mental health screening flagged 6.4% of patients, with a significantly higher rate (26.5%) among those who experienced fetal or neonatal loss compared to those who did not (4.3%, p < 0.00001).

Conclusion: The implementation of a comprehensive nurse-led postpartum program in a fetal therapy center achieved a high engagement rate and demonstrated feasibility and value in bridging care gaps supporting the expansion of telehealth-based postpartum follow-up in fetal therapy centers.

Introduction: Congenital hydrocephalus often results in irreversible and severe damage to the brain despite postnatal interventions. The potential for prenatal intervention to mitigate these deleterious effects underscores the importance of a suitable animal model. We aimed assess the results of an ultrasound-guided transuterine approach to replicate the BioGlue injection fetal hydrocephalus model.

Methods: Pregnant ewes were anesthetized at 95 days of gestation and BioGlue was injected into the fetal cisterna magna under ultrasound guidance through the uterus. Ventriculomegaly was assessed by MRI and histology.

Results: Nine pregnant ewes were included in the study, and their fetuses were divided into the BioGlue intervention group (n = 9 fetuses) or the control group (n = 7 fetuses) who were not injected. Although hydrocephalus was noted in 5 of 9 fetuses in the intervention group, the ability to induce hydrocephalus went from 0% to 100% in the last 3 fetuses following technical modifications. None of the controls developed hydrocephalus. Fetal brains with hydrocephalus demonstrated increased IBA1+ compared to control animals.

Conclusions: While technical challenges were noted, the ultrasound-guided transuterine approach to replicate the BioGlue fetal hydrocephalus model in sheep showed consistent and reproducible results. This model offers the advantage of directly visualizing the location of the needle tip and injection of the BioGlue. This technique offers an alternative for testing novel approaches for prenatal congenital hydrocephalus treatment.

Introduction: Hypoxic-ischemic encephalopathy (HIE) is a syndrome involving the fetal central nervous system as the result of a perinatal hypoxic-ischemic injury. To date, transfontanellar ultrasound represents the first-line exam in neonates with clinical suspicion of HIE as it allows the showing of features indicating acute hypoxic injury and excludes potential non-hypoxic determinants of HIE; however, there is no report concerning the sonographic assessment of the brain during labor. In this clinical case, we report the intrapartum sonographic evaluation of the fetal brain as a tool for the differential diagnosis of cardiotocographic abnormalities.

Case presentation: A 42-year-old para 2 woman underwent labor induction at 37 + 3 weeks due to preeclampsia. On admission, cardiotocography was normal, as was umbilical artery Doppler. De novo changes of the CTG pattern prior to the onset of labor raised the suspicion of a supervening fetal cerebral insult, leading to the decision to expedite delivery by emergency cesarean. During the preparation for delivery, intrapartum ultrasound allowed the demonstration of fetal cerebral edema representing an early sign of superimposed intrapartum acute hypoxic insult in the context of chronic antepartum hypoxia and excluding non-hypoxic conditions of cardiotocographic abnormalities.

Conclusion: This is the first intrapartum sonographic demonstration of imaging findings consistent with cerebral edema in a fetus at risk for in utero hypoxia, hence suspected for fetal hypoxic-ischemic encephalopathy. Intrapartum ultrasound can assist clinicians in the differential diagnosis of intrapartum fetal hypoxia as long as it does not delay any interventions required to prevent hypoxic injury.

Introduction: Twin-twin transfusion syndrome (TTTS) is a rare occurrence in monochorionic monoamniotic (MCMA) multiple gestations. Clinical management remains challenging due to increased technical difficulty of selective laser photocoagulation of communicating vessels and limited data regarding outcomes after laser surgery. Our objective was to present the outcomes of MCMA multiple gestations with TTTS who underwent laser surgery.

Methods: Retrospective study of all MCMA multiple gestations between 2006 and 2024 across two institutions treated with laser surgery for TTTS. Results are presented as median (range).

Results: Out of 1,078 laser surgeries for TTTS, 6 (0.6%) were performed in MCMA gestations: 5 MCMA twins and 1 dichorionic diamniotic triplet. The gestational age (GA) at diagnosis was 19.5 (16.9-22.3) weeks. Quintero stage was II (n = 3) and III (n = 3). The placental cord insertion sites were proximal (<4 cm apart) in 2 (33%) cases. Despite increased technical difficulty, laser surgery was successfully completed in all cases. One case required more than 1 trocar entry to adequately evaluate the complex vascular equator. The GA at delivery was 27.2 (23.6-31.7) weeks. Indications for delivery included placental abruption (n = 2; 33%), fetal growth restriction (n = 2; 33%), chorioamnionitis (n = 1; 17%), and elective (n = 1; 17%). Dual 30-day survivorship occurred in 5 (83%) patients and dual demise occurred in 1 (17%) patient.

Conclusion: Laser surgery for TTTS in MCMA multiple gestations is technically feasible. However, outcomes are guarded compared to monochorionic diamniotic twins. Additional studies are needed to investigate the optimal management of TTTS in monoamniotic multiple gestations.